So, I’m not a scientist or medical profession. I’ve no close relatives in a place to be deeply affected by gene therapy trials, though there are some more distant ones. For me, I’ve recently gone on a kick Googling currently in-progress human trails. Started with me casually looking up Rett Syndrome to see if there were any there (I’ve been somewhat interested since the “reversibility” thing came up in mouse studies ages ago (not in any sense something that could be done in humans - it’s the idea that the skills could be regained that interested me, not the methodology).
I know with Phase 1 or even Phase 2 trials, there’s a good chance of phase 3 being less promising and the whole things collapsing. But these intrigue me. Some will need re-administration, though. None of these use CRISPR - AAV is most common, I think.
My search led me to a Phase 1/2 trial for infantile spinal muscular atrophy (BTW, recently had the first drug approved to treat all types of SMA, so that’s exciting, too). The PDF with their results is linked here.
Also, some interesting trials for Hemophilia - Hemophilia A from BioMarinResults look good. Have to keep an eye on side effects. This one will need re-treatments, so the question is how often, I guess. Another company has a phase 1 trial for Hemophilia B.
Resurrecting my own dead thread (that no else replied to, so was it ever really alive?) because earlier this month the SMA gene therapy I mentioned was approved by the FDA.
That is interesting. I look forward to the clinical trials.
For the other ones I mentioned back then, I can see that BioMarin’s Hemophilia A is still in trials, and there was some indication of it wearing off in some patients (but we knew back then it would not be permanent, so I think this is more about us having a time frame).
Looks like Pfizer took over the Hemophilia B treatment. I haven’t heard much about it.
Obviously Zolgensma is the headline item here. I’ll look out for the Summary Basis of Approval, and I’ll post it when it’s published - it may be a while. but it looks like that would give a 2-year update on the link you provided.
There’s an up-to-date clinical summary (very brief) in section 14 of the Package Insert.
I have been considering posting a thread to discuss the health economic aspects of this drug (at $2.1M per shot). But I’ll need to do some reading first - it doesn’t fit the typical models used when costing QALYs (so far as I can figure out) because health economics don’t often (ever?) assess the “value” of a whole life (not that this drug will be shown, for many years, to provide a normal life expectancy). Frankly, I’m not at all sure I’m qualified to kick this off, but I may do anyway just to see what comes up.
The young girl tugged on her mother’s hand as they pressed through the doors of the hospital in Shanghai. She was 6 years old, bouncing along in a pink jacket and blue pants decorated with cartoon bears. Behind them, her father rolled a large suitcase with everything the child needed for the weeklong stay: stuffed animals, Play-Doh, an iPad loaded with episodes of Peppa Pig.
She told her parents it felt like they were going on vacation. In fact, they brought her here for an experimental gene therapy. The girl was slipping behind her peers in kindergarten. She still spoke in simple sentences and ate with training chopsticks. Underneath it all was a single mutated DNA base, a T that should have been a C.
A fatal reaction: A cutting-edge gene-editing trial in China went disastrously wrong. A family wants accountability
Note: “Another potential concern, however, emerged about 1 month before Mei was treated: the final conclusions of a primate toxicology study conducted at PriMed. The company’s report, dated 17 February 2025, concluded all four monkeys that received the therapy, whether at low or high doses, developed moderate to severe liver damage…One monkey, which received a high dose of the viruses, also showed kidney damage.”
They never should have experimented on Mei, the little girl.